Gregory Block, senior fellow in pediatrics at the University of Washington in Seattle, was awarded an MDA development grant totaling $179,994 over a period of three years to search for treatment targets in facioscapulohumeral muscular dystrophy (FSHD).
FSHD occurs when a section at the tip of one chromosome, chromosome number 4, is shortened. When that happens, it allows a gene called DUX4 to remain active into adulthood, instead of becoming inactive after early development. The symptoms of FSHD are due to this extended activity of DUX4, so preventing that activity, or blocking its effects, could be therapeutic in the disease. Block has developed a cell-based system to study DUX4 activation, and has found one chemical pathway in muscle cells that can prevent activation. He will continue investigating this pathway to determine if it can be used to develop treatments for FSHD.
“This is an exciting time for FSHD research,” Block says. “Four years ago, there was still considerable debate as to the genetic cause of the disease, and today we are challenged with defining pragmatic approaches for disease intervention. We are hoping the data generated from this project will provide considerable insight into the mechanisms used by cells to silence DUX4.”
Funding for this MDA grant began August 1, 2013.